Canonical Allele Identifier: CA3045950934

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852948_102852949insGAAACTGAGAAACGTCTTCT , CM000674.2:g.102852948_102852949insGAAACTGAGAAACGTCTTCT	GRCh38
NC_000012.11:g.103246726_103246727insGAAACTGAGAAACGTCTTCT , CM000674.1:g.103246726_103246727insGAAACTGAGAAACGTCTTCT	GRCh37
NC_000012.10:g.101770856_101770857insGAAACTGAGAAACGTCTTCT	NCBI36
NG_008690.1:g.69654_69655insAGAAGACGTTTCTCAGTTTC
NG_008690.2:g.110462_110463insAGAAGACGTTTCTCAGTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.708_709insAGAAGACGTTTCTCAGTTTC MANE Select	ENSP00000448059.1:p.Cys237ArgfsTer?
ENST00000307000.7:c.693_694insAGAAGACGTTTCTCAGTTTC	ENSP00000303500.2:p.Cys232ArgfsTer?
ENST00000549247.6:n.467_468insAGAAGACGTTTCTCAGTTTC
ENST00000553106.5:c.708_709insAGAAGACGTTTCTCAGTTTC	ENSP00000448059.1:p.Cys237ArgfsTer?
NM_000277.1:c.708_709insAGAAGACGTTTCTCAGTTTC	NP_000268.1:p.Cys237ArgfsTer?
XM_011538422.1:c.708_709insAGAAGACGTTTCTCAGTTTC	XP_011536724.1:p.Cys237ArgfsTer?
NM_000277.2:c.708_709insAGAAGACGTTTCTCAGTTTC	NP_000268.1:p.Cys237ArgfsTer?
NM_001354304.1:c.708_709insAGAAGACGTTTCTCAGTTTC	NP_001341233.1:p.Cys237ArgfsTer?
NM_000277.3:c.708_709insAGAAGACGTTTCTCAGTTTC MANE Select	NP_000268.1:p.Cys237ArgfsTer?
NM_001354304.2:c.708_709insAGAAGACGTTTCTCAGTTTC	NP_001341233.1:p.Cys237ArgfsTer?